Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198056 | SCV001368841 | pathogenic | Leber congenital amaurosis 6 | 2019-03-14 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5. |
Centre for Genomic Medicine, |
RCV000225543 | SCV000282616 | likely pathogenic | Retinal dystrophy | no assertion criteria provided | clinical testing |